Genetic causes of male infertility and azoospermia
Genetics of Male Infertility: Accelerating the pace of discovery
This project aims to find gene changes that cause nonobstructive azoospermia in men to improve diagnosis and guide future treatments.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Magee-Women's Res Inst and Foundation NIH-funded |
| Lab location | 1 site (Pittsburgh, UNITED STATES) |
| Project ID | NIH-11194422 on NIH RePORTER |
What this research studies
If you have unexplained absence of sperm, researchers will sequence genomes from affected men to look for genetic changes that might explain infertility. An international team will create rules for interpreting those genetic changes so they can be used in clinical genetic tests. In lab experiments they will grow early sperm cells in vitro and use chimeric mice to test whether specific gene changes disrupt sperm development. The team will also study how epigenetic factors affect early germ cell development and compare mouse reproductive findings to human data.
Who could benefit from this research
Good fit: Men with unexplained nonobstructive azoospermia or severe unexplained infertility would be the most relevant candidates for this work.
Not a fit: People whose infertility is due to obstructive causes, clear environmental or reversible factors, or unrelated conditions are unlikely to benefit directly from these genetic-focused efforts.
Why it matters
Potential benefit: This work could lead to clearer genetic diagnoses, better counseling, and eventually patient-tailored treatments for some men with azoospermia.
How similar studies have performed: Previous genetic studies have identified some causes of male infertility, but many cases remain unexplained and this program combines sequencing with new lab validation approaches that are relatively novel.
Where this research is happening
Pittsburgh, UNITED STATES
- Magee-Women's Res Inst and Foundation — Pittsburgh, United States (Active)
Researchers
- Principal investigator: Orwig, Kyle Edwin — Magee-Women's Res Inst and Foundation
- Study coordinator: Orwig, Kyle Edwin
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.